Global Variome shared LOVD

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Phenotype #0000159270 Individual ID 00210705 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details moderate-severe developmental delay; absence of language; no behavioral abnormalities ; no hypotonia; seizures; no movement disorder; MRI abnormal corpus callosum; no failure to thrive; sucking/feeding difficulty; thin/sparse scalp hair; no hypertrichosis; thick eyebrows; long eyelashes; ptosis; no thin upper lip vermilion; thick lower lip vermilion; abnormal palate; nose upturned/anteverted nostrils; 5th finger or toe/nails abnormaliy; no scoliosis; no ardiovascular abnormality; no inguinal hernia; no undescended testis; hyper pigmented irregular skin on back Inheritance Isolated (sporadic) Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-12-28 14:25:32 +01:00 (CET) Date last edited N/A

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